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New insights into tuberous sclerosis complex: from structure to pathogenesis

27 Jun 2025

Abstract excerpt

Tuberous sclerosis complex is a genetic disorder characterised by the formation of benign tumours in multiple organs, primarily due to pathogenic variants in the TSC1 and TSC2 tumour suppressor genes. These genes encode hamartin and tuberin, respectively, which together with TBC1D7 form a crucial protein complex regulating cell growth and proliferation through mTOR signalling and other pathways. This review...

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PMID: 40655946
DOI: 10.3389/fcell.2025.1595867

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